A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066765



Internal ID18809296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:64520760..65128185hg38UCSC Ensembl
Innerchr17:62516878..63124303hg19UCSC Ensembl
Innerchr17:59947340..60554765hg18UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg38607426
hg19607426
hg18607426
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3567726
Samples
Known GenesAMZ2P1, CEP95, GNA13, LOC146880, LRRC37A3, MIR4315-1, MIR4315-2, MIR6080, PLEKHM1P, SMURF2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1066765
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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